Assay Details
Target Gene Details
Entrez Gene ID: | 90288 |
Gene Name: | EF-hand calcium binding domain 12 |
Gene Aliases: |
C3orf25 |
Location: |
Chr.3:129401321-129428651 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EFCAB12 | NM_207307.2 | 5 | 1133 | NP_997190.1 |
XM_011513293.2 | 5 | 3207 | XP_011511595.1 | |
XM_011513294.2 | 5 | 3205 | XP_011511596.1 | |
XM_011513295.2 | 5 | 3208 | XP_011511597.1 | |
XM_011513297.2 | 5 | 3209 | XP_011511599.1 | |
XM_011513298.1 | 2 | 638 | XP_011511600.1 | |
XM_011513299.2 | 2 | 832 | XP_011511601.1 | |
AK096099.1 | 3 | 559 | ||
AK127968.1 | 5 | 1118 | ||
AL133011.1 | 3 | 4591 | CAH10712.1 | |
BC066975.1 | 5 | 1133 | AAH66975.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2725901 | Chr.3:129380821 - 129487939 on Build GRCh38 | Deletion | RPL32P3 IFT122 SNORA7B MBD4 EFCAB12 |
esv3597741 | Chr.3:129383049 - 129486193 on Build GRCh38 | Loss | RPL32P3 IFT122 SNORA7B MBD4 EFCAB12 |
nsv591668 | Chr.3:129403449 - 129490335 on Build GRCh38 | Gain | IFT122 MBD4 EFCAB12 |
More Information
Additional Information:
For this assay, SNP(s) [rs73865436] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |